Charlotte Sumner MD

Professor of Neurology, Neuroscience and Genetic Medicine




Sullivan JM, Bagnell A, Saavedra-Rivera PC, Mihaljević L, Avila EM, Alevy J, Kong L, Huh JS, McCray BA, Linville RM, Aisenberg WH, Zuberi AR, Rich MM, Bogdanik L, Lutz CM, Quinlan KA, Qiu Z, Searson PC, Sumner CJ. Endothelial barrier breakdown drives TRPV4-associated motor neuron disease. Science Translational Medicine 2024;16:eadk1358.

Bharucha-Goebel D, Saade D, Todd JJ, Norato G, Jain M, Lehky T, Rybin D, Baily R, Zein W, Averion G, Chichester J, Calcedo Del Hoyo R, Hu Y, Foley R, Waite M, Huryn L, Hooper J, Crawford TO, Mohassel P, Heiss J, Sumner CJ, Kang E, Donkervoort S, Hoke A, Armao D, Gray S, Bonnenmann CG, for the GAN Trial Team. Single-dose intrathecal gene therapy for giant axonal axonal neuropathy: a first-in-human, open label, dose escalation trial. New England Journal of Medicine, 2024:390;1092-1104.

Kong L, Hassinan C, Petigrow J, Büttner J, Chan-Cortés M, Valdivia D, Mistri A, Ross J, McGaugh S, Schwab M, Simon C, Sumner CJ. Neuregulin1 type-III overexpression hastens motor axonal myelination but does not prevent degeneration in spinal muscular atrophy mice. Acta Neuropathologica Communications, 2023;11:53

Kwon DH, Zhang F, McCray BA, Kumar M, Sullivan JM, Sumner CJ, and Lee S-Y. Structural insights into TRPV4-RhoGTPase complex function and disease. Nature Communications, 2023:14;3732.

Kong L, Valdivia D, Simon CM, Hassinan C, Delestrée N, Ramos DM, Park JH, Pilato CH, Xu X, Crowder M, Grzyb C, King Z, Petrillo M, Swoboda KJ, Davis C, Lutz CM, Stephan AH, Xhao X, Weetall M, Naryshkin N, Crawford TO, Mentis GZ, Sumner CJ. Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA. Science Translational Medicine, 2021;13:eabb6871

Woolums BM, McCray BA, Sung H, Tabuchi M, Sullivan JM, Ruppell JT, Yang Y, Mamah C, Aisenberg WH, Saavedra-Rivera PS, Larin BS, Lau AR, Robinson DN, Xiang Y, Wu MN, Sumner CJ*, Lloyd TE* (*co-corresponding). TRPV4 disrupts mitochondrial transport and causes axonal degeneration via CaMKII-dependent increases of intracellular Ca2+. Nature Communications, 2020;11:2679 (Highlighted in Nature Reviews Neuroscience).

Ramos D, d’Ydewalle C, Gabbeta V, Dakka A, Klein S, Norris D, Matson J, Taylor SJ, Zaworski PG, Prior TW, Snyder PJ, Valdivia D, Hatem CL, Waters I, Swoboda KJ, Rigo F, Bennett CF, Naryshkin N, Paushkin S, Crawford TO, Sumner CJ. Normal developmental, disease and post-therapy SMN expression: implications for treating SMA patients. Journal of Clinical Investigation, 2019, 129:4817-4831.

D’Ydewalle C, Ramos DM, Pyles NJ, Ng SY, Gorz M, Pilato CM, Ling K, Kong L, Ward AJ, Rubin LL, Rigo F, Bennett CF, Sumner CJ. The antisense transcript SMN-AS1 regulates SMN expression and is a novel therapeutic target for spinal muscular atrophy. Neuron 2017; 93:66-79.